A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225167



Internal ID22368380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25138056..25169113hg38UCSC Ensembl
Outerchr14:25607262..25638319hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3831058
hg1931058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258912, nssv14258911
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225167
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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